Incidental Mutation 'R1657:Cyp3a44'
| ID |
186456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a44
|
| Ensembl Gene |
ENSMUSG00000054417 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 44 |
| Synonyms |
|
| MMRRC Submission |
039693-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R1657 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
145773983-145805874 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 145779743 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 346
(P346S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067479]
|
| AlphaFold |
Q9EQW4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067479
AA Change: P346S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000069932
Gene: ENSMUSG00000054417
AA Change: P346S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
Pfam:p450
|
38 |
494 |
2.4e-133 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610009B22Rik |
T |
C |
11: 51,685,678 (GRCm38) |
Q131R |
probably benign |
Het |
| 3632451O06Rik |
G |
C |
14: 49,773,560 (GRCm38) |
T230S |
probably damaging |
Het |
| Acaca |
T |
G |
11: 84,264,084 (GRCm38) |
D988E |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,180,601 (GRCm38) |
V1185A |
probably damaging |
Het |
| Amdhd2 |
A |
G |
17: 24,156,055 (GRCm38) |
V391A |
probably damaging |
Het |
| Caprin1 |
A |
T |
2: 103,769,506 (GRCm38) |
V608E |
probably damaging |
Het |
| Celsr3 |
T |
A |
9: 108,842,952 (GRCm38) |
C2512* |
probably null |
Het |
| Cfl1 |
A |
T |
19: 5,493,555 (GRCm38) |
R187W |
probably damaging |
Het |
| Cgnl1 |
C |
T |
9: 71,725,944 (GRCm38) |
V42I |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,480,430 (GRCm38) |
Y826H |
probably damaging |
Het |
| Col9a2 |
C |
A |
4: 121,040,974 (GRCm38) |
P28T |
unknown |
Het |
| Dact2 |
A |
G |
17: 14,197,990 (GRCm38) |
V151A |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 112,952,843 (GRCm38) |
I716T |
probably damaging |
Het |
| Esam |
T |
C |
9: 37,537,621 (GRCm38) |
S342P |
probably damaging |
Het |
| Fam189a2 |
C |
A |
19: 23,975,635 (GRCm38) |
C437F |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 156,035,598 (GRCm38) |
V1053A |
possibly damaging |
Het |
| Grk3 |
A |
G |
5: 112,966,982 (GRCm38) |
F124S |
probably damaging |
Het |
| H2-DMa |
G |
A |
17: 34,137,399 (GRCm38) |
|
probably null |
Het |
| Hsd3b5 |
T |
A |
3: 98,619,720 (GRCm38) |
I137F |
possibly damaging |
Het |
| Itgav |
A |
T |
2: 83,801,779 (GRCm38) |
I902F |
probably benign |
Het |
| Itsn1 |
G |
T |
16: 91,909,223 (GRCm38) |
C179F |
probably damaging |
Het |
| Kcnh8 |
G |
A |
17: 52,839,125 (GRCm38) |
R347H |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,489,966 (GRCm38) |
M166T |
possibly damaging |
Het |
| Kmt5c |
C |
T |
7: 4,746,454 (GRCm38) |
Q324* |
probably null |
Het |
| Lcn9 |
G |
A |
2: 25,824,710 (GRCm38) |
E154K |
probably benign |
Het |
| Mfge8 |
A |
T |
7: 79,141,773 (GRCm38) |
L227Q |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,931,043 (GRCm38) |
R753* |
probably null |
Het |
| Mtif2 |
G |
A |
11: 29,540,721 (GRCm38) |
R475Q |
probably benign |
Het |
| Nln |
C |
T |
13: 104,036,947 (GRCm38) |
V584I |
possibly damaging |
Het |
| Nr2e3 |
T |
C |
9: 59,948,767 (GRCm38) |
E129G |
probably benign |
Het |
| Ocstamp |
T |
C |
2: 165,397,516 (GRCm38) |
D250G |
probably damaging |
Het |
| Olfr1065 |
A |
C |
2: 86,445,218 (GRCm38) |
L255V |
probably damaging |
Het |
| Olfr403 |
A |
T |
11: 74,195,896 (GRCm38) |
H131L |
probably damaging |
Het |
| Olfr503 |
T |
C |
7: 108,545,377 (GRCm38) |
I284T |
possibly damaging |
Het |
| Pld1 |
A |
T |
3: 28,071,187 (GRCm38) |
I417L |
probably benign |
Het |
| Polr1a |
A |
T |
6: 71,941,535 (GRCm38) |
K692N |
probably damaging |
Het |
| Qsox2 |
A |
T |
2: 26,220,747 (GRCm38) |
Y152* |
probably null |
Het |
| Rpap1 |
T |
C |
2: 119,783,778 (GRCm38) |
D46G |
possibly damaging |
Het |
| Rpe65 |
A |
G |
3: 159,614,448 (GRCm38) |
T246A |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,562,380 (GRCm38) |
D82G |
probably damaging |
Het |
| Sema3d |
A |
G |
5: 12,584,974 (GRCm38) |
E669G |
possibly damaging |
Het |
| Serpinb6c |
T |
C |
13: 33,880,226 (GRCm38) |
N282S |
probably benign |
Het |
| Snap47 |
A |
T |
11: 59,428,770 (GRCm38) |
S181T |
probably benign |
Het |
| Snx9 |
A |
C |
17: 5,918,436 (GRCm38) |
T336P |
possibly damaging |
Het |
| Sphkap |
G |
A |
1: 83,277,515 (GRCm38) |
R838* |
probably null |
Het |
| Terb1 |
A |
T |
8: 104,488,491 (GRCm38) |
D284E |
possibly damaging |
Het |
| Tmem266 |
C |
T |
9: 55,418,008 (GRCm38) |
A153V |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,742,804 (GRCm38) |
E25915G |
possibly damaging |
Het |
| Tubal3 |
A |
G |
13: 3,933,011 (GRCm38) |
T264A |
possibly damaging |
Het |
| Vldlr |
G |
A |
19: 27,245,670 (GRCm38) |
R747Q |
probably benign |
Het |
| Zc3h8 |
G |
T |
2: 128,929,957 (GRCm38) |
|
probably benign |
Het |
| Zfp184 |
C |
T |
13: 21,959,273 (GRCm38) |
T383M |
probably damaging |
Het |
| Zfp455 |
T |
C |
13: 67,198,639 (GRCm38) |
F38S |
possibly damaging |
Het |
| Zfp746 |
A |
G |
6: 48,082,174 (GRCm38) |
V167A |
possibly damaging |
Het |
| Zfp985 |
T |
A |
4: 147,584,110 (GRCm38) |
N478K |
probably benign |
Het |
|
| Other mutations in Cyp3a44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00813:Cyp3a44
|
APN |
5 |
145,774,347 (GRCm38) |
makesense |
probably null |
|
|
IGL00972:Cyp3a44
|
APN |
5 |
145,779,724 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL01062:Cyp3a44
|
APN |
5 |
145,794,339 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL01072:Cyp3a44
|
APN |
5 |
145,791,628 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01515:Cyp3a44
|
APN |
5 |
145,799,418 (GRCm38) |
nonsense |
probably null |
|
|
IGL01738:Cyp3a44
|
APN |
5 |
145,794,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01869:Cyp3a44
|
APN |
5 |
145,790,686 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02269:Cyp3a44
|
APN |
5 |
145,805,737 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL02284:Cyp3a44
|
APN |
5 |
145,788,369 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02479:Cyp3a44
|
APN |
5 |
145,790,667 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02480:Cyp3a44
|
APN |
5 |
145,794,905 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02506:Cyp3a44
|
APN |
5 |
145,799,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02957:Cyp3a44
|
APN |
5 |
145,779,662 (GRCm38) |
nonsense |
probably null |
|
|
IGL02978:Cyp3a44
|
APN |
5 |
145,788,398 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0427:Cyp3a44
|
UTSW |
5 |
145,779,602 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1240:Cyp3a44
|
UTSW |
5 |
145,774,440 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1247:Cyp3a44
|
UTSW |
5 |
145,791,667 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2096:Cyp3a44
|
UTSW |
5 |
145,788,405 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2156:Cyp3a44
|
UTSW |
5 |
145,803,670 (GRCm38) |
nonsense |
probably null |
|
|
R2412:Cyp3a44
|
UTSW |
5 |
145,779,579 (GRCm38) |
nonsense |
probably null |
|
|
R4817:Cyp3a44
|
UTSW |
5 |
145,803,755 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R4884:Cyp3a44
|
UTSW |
5 |
145,777,982 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5266:Cyp3a44
|
UTSW |
5 |
145,794,397 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R5301:Cyp3a44
|
UTSW |
5 |
145,788,516 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5463:Cyp3a44
|
UTSW |
5 |
145,803,744 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5625:Cyp3a44
|
UTSW |
5 |
145,779,566 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R5635:Cyp3a44
|
UTSW |
5 |
145,801,314 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5924:Cyp3a44
|
UTSW |
5 |
145,794,327 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R5964:Cyp3a44
|
UTSW |
5 |
145,788,467 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5988:Cyp3a44
|
UTSW |
5 |
145,794,918 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6011:Cyp3a44
|
UTSW |
5 |
145,801,274 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6032:Cyp3a44
|
UTSW |
5 |
145,777,946 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6032:Cyp3a44
|
UTSW |
5 |
145,777,946 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6413:Cyp3a44
|
UTSW |
5 |
145,794,444 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6579:Cyp3a44
|
UTSW |
5 |
145,790,706 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6587:Cyp3a44
|
UTSW |
5 |
145,805,759 (GRCm38) |
missense |
probably benign |
0.23 |
|
R6709:Cyp3a44
|
UTSW |
5 |
145,778,092 (GRCm38) |
splice site |
probably null |
|
|
R6727:Cyp3a44
|
UTSW |
5 |
145,794,971 (GRCm38) |
nonsense |
probably null |
|
|
R6825:Cyp3a44
|
UTSW |
5 |
145,779,586 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7142:Cyp3a44
|
UTSW |
5 |
145,777,961 (GRCm38) |
missense |
probably benign |
0.24 |
|
R7352:Cyp3a44
|
UTSW |
5 |
145,803,688 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7921:Cyp3a44
|
UTSW |
5 |
145,791,688 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7962:Cyp3a44
|
UTSW |
5 |
145,801,325 (GRCm38) |
missense |
probably benign |
|
|
R8099:Cyp3a44
|
UTSW |
5 |
145,788,402 (GRCm38) |
missense |
probably benign |
0.12 |
|
R8240:Cyp3a44
|
UTSW |
5 |
145,788,447 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8836:Cyp3a44
|
UTSW |
5 |
145,794,918 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8923:Cyp3a44
|
UTSW |
5 |
145,799,361 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8934:Cyp3a44
|
UTSW |
5 |
145,794,976 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R9019:Cyp3a44
|
UTSW |
5 |
145,790,709 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9287:Cyp3a44
|
UTSW |
5 |
145,788,392 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9293:Cyp3a44
|
UTSW |
5 |
145,774,377 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9425:Cyp3a44
|
UTSW |
5 |
145,803,738 (GRCm38) |
nonsense |
probably null |
|
|
Z1176:Cyp3a44
|
UTSW |
5 |
145,791,664 (GRCm38) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGACTTTCTGCCAGTCGCAcc -3'
(R):5'- ggaaggggcttgtGTGCTTAGAAAC -3'
Sequencing Primer
(F):5'- cctcccctctcctctcttttc -3'
(R):5'- TTTGGGGATGCTGAGAACTC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation